| Typicality: | 0.571 |
| Saliency: | 0.817 |
| with aniridia | 22 | other |
| with cardiomyopathy | 16 | other |
| with thrombocytopenia thc4 | 10 | other |
| mutation → be identified in → patient | 129 |
| mutation → be detected in → patient | 29 |
| mutation → be identified in → human patients | 5 |
| mutation → detect in → patient | 4 |
| mutation → be identified in → our patient | 3 |
| negative | neutral | positive |
| 0.318 | 0.645 | 0.037 |
| Raw frequency | 170 |
| Normalized frequency | 0.817 |
| Modifier score | 0.414 |
| Perplexity | 65.364 |